TARDBP Gene (Protein Coding)

TAR DNA Binding Protein

GC01P011013
GIFtS:
45
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a tran... See more...

Aliases for TARDBP Gene

Aliases for TARDBP Gene

  • TAR DNA Binding Protein 2 3 5
  • TDP-43 2 3 4
  • TAR DNA-Binding Protein 43 3 4
  • ALS10 2 3
  • TAR DNA-Binding Protein-43 3
  • TARDBP 5
  • TDP43 4

External Ids for TARDBP Gene

Previous GeneCards Identifiers for TARDBP Gene

  • GC01P011033
  • GC01P010916
  • GC01P010682
  • GC01P010782
  • GC01P011006
  • GC01P010224
  • GC01P011072

Summaries for TARDBP Gene

Entrez Gene Summary for TARDBP Gene

  • HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]

GeneCards Summary for TARDBP Gene

TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia and Motor Neuron Disease. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is PABPC4.

UniProtKB/Swiss-Prot Summary for TARDBP Gene

  • RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980).

Gene Wiki entry for TARDBP Gene

Additional gene information for TARDBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TARDBP Gene

Genomics for TARDBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TARDBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TARDBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TARDBP

Top Transcription factor binding sites by QIAGEN in the TARDBP gene promoter:
  • c-Myb
  • E47
  • Hand1
  • HEN1
  • IRF-1
  • LyF-1
  • Pbx1a
  • STAT5A
  • Tal-1

Genomic Locations for TARDBP Gene

Genomic Locations for TARDBP Gene
chr1:11,012,344-11,030,528
(GRCh38/hg38)
Size:
18,185 bases
Orientation:
Plus strand
chr1:11,072,414-11,085,796
(GRCh37/hg19)
Size:
13,383 bases
Orientation:
Plus strand

Genomic View for TARDBP Gene

Genes around TARDBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TARDBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TARDBP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TARDBP Gene

Proteins for TARDBP Gene

Products:

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  3. Assay

  • Protein details for TARDBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13148-TADBP_HUMAN
    Recommended name:
    TAR DNA-binding protein 43
    Protein Accession:
    Q13148
    Secondary Accessions:
    • A4GUK4
    • A4GUK5
    • A4GUK6
    • B2R629
    • B4DJ45
    • E2PU12
    • Q53H27
    • Q6FI92
    • Q96DJ0

    Protein attributes for TARDBP Gene

    Size:
    414 amino acids
    Molecular mass:
    44740 Da
    Quaternary structure:
    • Homodimer (PubMed:20043239, PubMed:24464995). Homooligomer (via its N-terminal domain) (PubMed:28663553, PubMed:29438978). Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent (PubMed:20740007). Interacts with MATR3 (PubMed:24686783). Interacts with UBQLN2 (PubMed:23541532). Interacts with HNRNPA2B1 (PubMed:19429692). Interacts with ZNF106 (By similarity). Interacts with CNOT7/CAF1 (PubMed:30520513). Interacts with CRY2 (PubMed:27123980).
    SequenceCaution:
    • Sequence=ABO32290.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=ABO32292.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TARDBP Gene

    Alternative splice isoforms for TARDBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TARDBP Gene

Protein Expression for TARDBP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TARDBP Gene

  • Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Phosphorylated upon cellular stress.
  • Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
  • Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
  • Ubiquitination at Lys160, Lys181, Lys95, Lys102, and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for TARDBP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TARDBP

No data available for DME Specific Peptides for TARDBP Gene

Domains & Families for TARDBP Gene

Gene Families for TARDBP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TARDBP Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for TARDBP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58188, highly similar to TAR DNA-binding protein 43 (B4DJ45_HUMAN)
  • TAR DNA binding protein, isoform CRA_c (Q9H256_HUMAN)
  • TAR DNA-binding protein 43 (TADBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13148

UniProtKB/Swiss-Prot:

TADBP_HUMAN :
  • Consists of an N-terminal domain (NTD) and two tandem RNA recognition motifs, RRM1 and RRM2, followed by a C-terminal glycine-rich region.
Domain:
  • Consists of an N-terminal domain (NTD) and two tandem RNA recognition motifs, RRM1 and RRM2, followed by a C-terminal glycine-rich region.
  • Contains a nuclear localization sequence and is mostly nuclear; however, its nuclear export sequence permits it to transport mRNAs to the cytoplasm and even to synapses as part of neuronal granules.
genes like me logo Genes that share domains with TARDBP: view

Function for TARDBP Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TARDBP Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980).

Phenotypes From GWAS Catalog for TARDBP Gene

Gene Ontology (GO) - Molecular Function for TARDBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 7745706
GO:0003700 DNA-binding transcription factor activity TAS 7745706
genes like me logo Genes that share ontologies with TARDBP: view
genes like me logo Genes that share phenotypes with TARDBP: view

Human Phenotype Ontology for TARDBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TARDBP Gene

MGI Knock Outs for TARDBP:

Animal Model Products

CRISPR Products

miRNA for TARDBP Gene

miRTarBase miRNAs that target TARDBP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TARDBP Gene

Localization for TARDBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TARDBP Gene

Nucleus. Cytoplasm. Cytoplasm, Stress granule. Note=Continuously travels in and out of the nucleus (PubMed:18957508). Localizes to stress granules in response to oxidative stress (PubMed:19765185). {ECO:0000269 PubMed:18957508, ECO:0000269 PubMed:19765185}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TARDBP gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TARDBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 11285240
GO:0005654 nucleoplasm IBA,IDA --
GO:0005726 perichromatin fibrils IEA --
GO:0005737 cytoplasm IEA --
GO:0010494 cytoplasmic stress granule IEA --
genes like me logo Genes that share ontologies with TARDBP: view

Pathways & Interactions for TARDBP Gene

PathCards logo

SuperPathways for TARDBP Gene

SuperPathway Contained pathways
1 Neuroscience
Neuroscience
-
genes like me logo Genes that share pathways with TARDBP: view

Pathways by source for TARDBP Gene

1 Cell Signaling Technology pathway for TARDBP Gene

Gene Ontology (GO) - Biological Process for TARDBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IMP 18305152
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 7745706
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IDA 11285240
genes like me logo Genes that share ontologies with TARDBP: view

No data available for SIGNOR curated interactions for TARDBP Gene

Drugs & Compounds for TARDBP Gene

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  1. Drug

(1) Additional Compounds for TARDBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TARDBP: view

Transcripts for TARDBP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TARDBP Gene

1 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TARDBP Gene

No ASD Table

Relevant External Links for TARDBP Gene

GeneLoc Exon Structure for
TARDBP

Expression for TARDBP Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TARDBP Gene

mRNA expression in normal human tissues for TARDBP Gene
mRNA expression by GTEx for TARDBP GenemRNA expression by BioGPS for TARDBP Gene

Protein differential expression in normal tissues from HIPED for TARDBP Gene

This gene is overexpressed in Nasal epithelium (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TARDBP Gene



Protein tissue co-expression partners for TARDBP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TARDBP

SOURCE GeneReport for Unigene cluster for TARDBP Gene:

Hs.300624

mRNA Expression by UniProt/SwissProt for TARDBP Gene:

Q13148-TADBP_HUMAN
Tissue specificity: Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.

Evidence on tissue expression from TISSUES for TARDBP Gene

  • Nervous system(5)
  • Liver(4.6)
  • Kidney(3.8)
  • Blood(3.7)
  • Lung(3.6)
  • Skin(3.5)
  • Eye(3.4)
  • Muscle(3.1)
  • Intestine(3.1)
  • Pancreas(2.9)
  • Heart(2.6)
  • Adrenal gland(2.4)
  • Thyroid gland(2.4)
  • Spleen(2.3)
  • Lymph node(2.3)
  • Stomach(2.2)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TARDBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TARDBP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TARDBP Gene

Orthologs for TARDBP Gene

This gene was present in the common ancestor of animals.

Orthologs for TARDBP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TARDBP 30 31
  • 99.52 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TARDBP 31
  • 98 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TARDBP 30 31
  • 92.75 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tardbp 30 17 31
  • 90.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TARDBP 30 31
  • 89.94 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TARDBP 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TARDBP 30 31
  • 82.45 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tardbp 30
  • 76.49 (n)
MGC75857 30
African clawed frog
(Xenopus laevis)
 Amphibia tardbp-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii tardbpl 31
  • 76 (a)
 OneToMany
tardbp 30 31
  • 70.56 (n)
 OneToMany
wufb77f02 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3538 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7804 31 32
  • 47 (a)
 OneToMany
TBPH 31 32
  • 38 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F44G4.4 32
  • 38 (a)
tdp-1 31
  • 30 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10473 31
  • 44 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3080 30
Species where no ortholog for TARDBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TARDBP Gene

ENSEMBL:
Gene Tree for TARDBP (if available)
TreeFam:
Gene Tree for TARDBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TARDBP: view image

Paralogs for TARDBP Gene

Paralogs for TARDBP Gene

(7) SIMAP similar genes for TARDBP Gene using alignment to 10 proteins:

  • TADBP_HUMAN
  • B1AKP7_HUMAN
  • B4DJ45_HUMAN
  • G3V162_HUMAN
  • K7EJ99_HUMAN
  • K7EJM5_HUMAN
  • K7EL26_HUMAN
  • K7EN94_HUMAN
  • K7ENM9_HUMAN
  • Q9H256_HUMAN

Pseudogenes.org Pseudogenes for TARDBP Gene

genes like me logo Genes that share paralogs with TARDBP: view

Variants for TARDBP Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TARDBP Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
641575 Uncertain Significance: Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 11,022,515(+) C/CTGGAAATAACTCT INFRAME_INSERTION
704022 Benign: not provided 11,013,751(+) C/T SYNONYMOUS_VARIANT
741536 Likely Benign: not provided 11,018,801(+) A/G SYNONYMOUS_VARIANT
801435 Likely Pathogenic: Frontotemporal dementia 11,022,538(+) T/C MISSENSE_VARIANT
805651 Benign: not provided 11,022,384(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TARDBP Gene

Structural Variations from Database of Genomic Variants (DGV) for TARDBP Gene

Variant ID Type Subtype PubMed ID
nsv545407 CNV gain 21841781
nsv832425 CNV loss 17160897
nsv945768 CNV duplication 23825009

Variation tolerance for TARDBP Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TARDBP Gene

Human Gene Mutation Database (HGMD)
TARDBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TARDBP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TARDBP Gene

Disorders for TARDBP Gene

MalaCards: The human disease database

(69) MalaCards diseases for TARDBP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TADBP_HUMAN
  • Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:18288693, ECO:0000269 PubMed:18309045, ECO:0000269 PubMed:18372902, ECO:0000269 PubMed:18396105, ECO:0000269 PubMed:18438952, ECO:0000269 PubMed:19224587, ECO:0000269 PubMed:19350673, ECO:0000269 PubMed:19655382, ECO:0000269 PubMed:19695877, ECO:0000269 PubMed:20740007, ECO:0000269 PubMed:21220647, ECO:0000269 PubMed:21418058, ECO:0000269 PubMed:22456481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TARDBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TARDBP: view

No data available for Genatlas for TARDBP Gene

Publications for TARDBP Gene

  1. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID: 19224587) Corrado L … D'Alfonso S (Human mutation 2009) 3 4 23 41
  2. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. (PMID: 7745706) Ou SH … Gaynor RB (Journal of virology 1995) 2 3 4 23
  3. TDP-43 dimerizes in human cells in culture. (PMID: 20043239) Shiina Y … Satoh J (Cellular and molecular neurobiology 2010) 3 4 23
  4. Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. (PMID: 20082726) Xiong HL … Wu ZY (BMC medical genetics 2010) 3 23 41
  5. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. (PMID: 19350673) Benajiba L … French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease (Annals of neurology 2009) 3 4 23

ExternalLinks

View latest publications for TARDBP gene in Mastermind

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